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- W2138750987 abstract "Purpose: To identify mutations in the RDH5 gene in a family with a mother having fundus albipunctatus (FA) and 3 children with retinitis pigmentosa (RP). Methods: Ophthalmological examinations were performed to diagnose FA and RP. Mutational analysis of RDH5 was performed. Results/Conclusions: The mother was diagnosed with FA, and 3 children were diagnosed with RP. The proband's mother, brother, and sister had a novel mutation c.689_690CT > GG in RDH5. The proband and mother had a previously reported mutation c.928delCinsGAAG. Consequently, the mother's FA was caused by compound heterozygous mutations. Further studies will be needed to determine the gene responsible for children's RP." @default.
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- W2138750987 date "2008-01-01" @default.
- W2138750987 modified "2023-09-29" @default.
- W2138750987 title "Novel<i>RDH5</i>Mutation in Family with Mother Having Fundus Albipunctatus and Three Children with Retinitis Pigmentosa" @default.
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- W2138750987 doi "https://doi.org/10.1080/13816810701663535" @default.
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